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A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A

Sa-Yoon Kangorcid , Keun Hyuk Koorcid , Jung-Hwan Ohorcid
Annals of Clinical Neurophysiology 2019;21(1):57-60.
Published online: January 29, 2019
Department of Neurology, Jeju National University School of Medicine, Jeju, Korea
Corresponding author:  Sa-Yoon Kang, Tel: +82-64-754-8175, Fax: +82-64-717-1630, 
Email: neurokang@jejunu.ac.kr
Received: 14 June 2018   • Revised: 30 November 2018   • Accepted: 5 December 2018
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Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.

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